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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. … With Multi-omics Data to Provide Insights Into Prodromal Disease and Prevention Nathan Price, Onegevity and Institute …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease results when a malfunctioning gene hampers a person's … independently discovered the gene variant that causes the disease using a genomic technique called whole exome …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… New disease could provide insights into how the cell’s recycling … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five … of Health." Sadly, Tonya Hanson developed restrictive lung disease and died of pneumonia when she was 37 years …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
… interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH … process: RFA-HG-22-008 : Multi-Omics for Health and Disease — Disease Study Sites (U01 Clinical Trial Not Allowed) …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… researchers know little about their roles in health and disease. Clinicians and researchers hope to use information about genomic variants to evaluate individual disease risk, make better diagnoses, develop more appropriate … on genes and variants underlying certain forms of cancer, cardiovascular disease and metabolic disorders where the …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
… implications of COVID19 in individuals with mitochondrial disease or their family members is unknown. Individuals with mitochondrial disease may be particularly at risk for decline associated … like genetic differences in individuals with mitochondrial disease who may be infected with COVID-19. Our goal is to …